Metadata | |
---|---|
ID | DOID:1056 |
Name | oculocerebrorenal syndrome |
Definition | A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. https://ghr.nlm.nih.gov/condition/lowe-syndrome, https://www.omim.org/entry/309000 |
Xrefs |
MEDDRA:10051707 SNOMEDCT_US_2023_03_01:79385002 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
lowe oculocerebrorenal syndrome [EXACT] Lowe syndrome [EXACT] oculocerebrorenal syndrome of Lowe [EXACT] |
Parent Relationships |
is_a syndrome |